• Clinical and Experimental Pediatrics
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• 제49권8호
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• pp.833-838
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• 2006

Giant platelet syndrome is a group of unique disorders characterized by the presence of abnormally large platelets, and usually accompanied by thrombocytopenia. Most cases of giant platelets are encountered in idiopathic thrombocytopenic purpura(ITP). In contrast, inherited giant platelet disorders, a group of heterogeneous diseases, are rare. Bernard-Soulier syndrome and its variants, and MYH9 related diseases have been defined at the molecular level. Abnormalities in transcription factors are implicated in a couple of macrothrombocytopenia syndromes. However, the molecular defects are unknown in gray platelet syndrome. It is important to make a proper diagnosis of congenital macrothrombocytopenia to avoid unnecessary medications and potentially dangerous treatment for presumed ITP.

• 한국임상수의학회지
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• 제34권4호
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• pp.272-274
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• 2017

A 1-year-old intact male Cavalier King Charles Spaniel was presented with a ruptured anal sac. On routine preanesthetic screening tests for surgical resection, the thrombocytopenia was observed by an impedance-type autoanalyzer. A peripheral blood smear was used as a follow-up test and giant platelets were seen on the smear. DNA assay of this patient confirmed that the cause of the platelet abnormalities in this patient was genetic mutation. To our knowledge, this is the first case report of macrothrombocytopenia confirmed based on the DNA assay results, in a Cavalier King Charles Spaniel in Korea.